喉部Rosai-Dorfman病1例报道及文献复习

Rosai-Dorfman病是一种发生在淋巴结或结外组织的良性组织细胞增生性病变,而发生在喉部的结外Rosai-Dorfman病 例及其罕见,其病变特征不明显,缺乏典型的发热及淋巴结肿大症状,临床上易误诊为恶性肿瘤,治疗也无标准可循。本文 报道1 例喉部Rosai-Dorfman病,应用微创手术加激素治疗,保留了喉功能,取得良好疗效,并结合文献对这一罕见疾病的诊治 进行探讨。     

Genetic prediction and family structure in Huntington's chorea

A deoxyribonucleic acid marker linked to the locus for Huntington's chorea exists, but its possible use in the prediction of this disorder depends on the pedigree structure of individual families. Analysis of data from a population register for Huntington's chorea in south Wales showed that only a minority of subjects at risk had the appropriate members of their family living to allow the presence or absence of the gene to be definitively predicted. However, the structure of the family allowed a degree of prediction (in particular, exclusion of the disorder) to be made for the fetus during pregnancies of these subjects in almost 90% of cases. Such a prediction need not alter the risk state for the parent at risk. The structure of the family will remain crucial for prediction even when current limitations of the linked marker have been overcome.     

脾Gaucher病病理观察及文献复习

目的:阐明Gaucher病的临床病理形态特征,以提高对脾Gaucher病的认识,减少误诊,为临床诊断提供确切的依据.方法:应用苏木精伊红染色,光镜组织形态学观察,特殊染色PAS、免疫组织化学染色技术,结合相关文献对本病临床病理特点及治疗进行探讨.结果:患者肝脾肿大,光镜下见Gaucher细胞,PAS阳性反应.结论:慢性脾肿大患者应考虑本病可能,但要与引起脾肿大的其他疾病相鉴别.     

恶性萎缩性丘疹病并发肠穿孔1例并文献综述

患者,男,18岁,冈发现皮疹4年,剖腹探杏术后12 d、伤口渗液1 d人中南大学湘雅医院普外科.患者于2000年5月起无明显诱因出现颈部、躯干、四肢散在红色斑丘疹,以后部分斑丘疹中心萎缩、凹陷、呈白色(图1),同时伴有脐周疼痛,体温升高达40℃,抗炎可缓解,但皮疹范围逐渐增多,范围扩大至臀部和阴囊.20G12年来我院行皮肤活榆,示"恶性萎缩性丘疹病."     

帕金森病人危重疾病性多发性神经病1例临床分析

目的分析1例帕金森病人发生危重疾病性多发性神经病的过程、临床特点及早期诊断方法。方法对1例帕金森病危重疾病性多发神经病进行临床资料分析及相关文献回顾。结果该病人败血症过程不典型、发展快,早期以内环境紊乱为表现,很快引起呼吸肌无力,需用呼吸机辅助呼吸,但肢体活动尚好。在有效抗生素应用、内环境紊乱纠正后,仍然难以撒离呼吸机,行肌酶检查和脑脊液检查正常,肌电图发现四肢感觉与运动神经传导速度下降及波幅降低,提示危重疾病性多发神经病可能。结论帕金森病人发生败血症后,出现脱机困难和肢体无力时,应重视神经系统检查,及时观察病情变化和完善肌电图检查,考虑危重疾病性多发性神经病可能。避免危险因素,预防脓毒血症的发生可能是预防本病发生的有效措施。     

A 34-year-old man with Darier-White disease: a case report and review of the literature

Darier-White disease is an uncommon genodermatosis that is commonly under-recognized and is characteristically refractory to treatment. It is most frequently due to an autosomal dominant mutation in an intracellular calcium pump. It can be associated with severe cutaneous infections requiring hospitalization as well as neurologic and psychiatric comorbid disease. There are many treatment modalities described in the literature and systemic retinoids are the most effective. An increased clinical suspicion could possibly lead to a decreased delay in the diagnosis of this disease and an increased quality of life for these patients. We report a case of a man with Darier-White disease followed by a review of the current literature on the pathogenesis, clinical features, diagnosis, and treatment of this cutaneous malady.     

儿童颅内原发Rosai-Dorfman病1例及文献复习

颅内Rosai-Dorfman病(Rosai-Dorfman disease,RDD)是一类临床罕见的组织细胞增生性疾病。中南大学湘雅 医院收治1例12岁颅内RDD患儿,主诉为头痛、头晕1个月,行肿瘤全切除手术,术后应用激素及化学药物治疗。随 访8个月,病情稳定,未见肿瘤复发。对于此类肿瘤且有进展趋势者,应用立体定向活检术有助于明确诊断及手术方 案的选择(如骨瓣取舍等)。本病以手术干预为主,辅以放射治疗、化学药物治疗及激素治疗等方案,且手术应在不 影响神经功能的情况下力求全切肿瘤。     

Gossypiboma: a case report and review of the literature

Introduction  Post-operative complications in surgery may frequently be unavoidable. However, some complications result from human error, both in the intra-operative and post-operative period. One such complication, which is frequently underreported, is the retained swab, or gossypiboma. Case report  We report a case from our hospital of a patient who presented with unexplained pyrexia, 4 years post-gynaecological surgery in another institution. A 67-year-old woman from overseas presented to our emergency department with a 2-day-history of pyrexia, collapse and confusion. Following a CT guided biopsy, which was inconclusive, she was scheduled for retroperitoneal biopsy. In theatre, a retained swab was discovered. Conclusion  Prevention of gossypiboma is far better than cure. Strict adherence to swab counts, and the avoidance of change of staff during procedures is important in decreasing the incidence. Perhaps, with the increasing use of minimally invasive procedures, the incidence of gossypiboma will fall dramatically.     

Fabry病肾活检病理观察

目的： 探讨女性Fabry病的肾脏病理特点, 为临床诊断提供依据.方法： 对1例30岁有持续蛋白尿的女性患者行肾活检,标本在光镜和电镜下进行观察.结果： 肾活检的超微结构显示肾小球上皮细胞的胞浆中含有大量的嗜锇板层小体,呈圆形,由同心的致密层组成,直径约0.5～3 μm,板层小体的板层间隔周期约4～5 nm.结论： 肾小球脏层细胞内出现嗜锇板层小体是Fabry病特征性形态学改变.     

A type IV osteogenesis imperfecta family and pregnancy: a case report and literature review

Osteogenesis imperfecta is a group of inherited connective-tissue disorders in which synthesis or structure of type I collagen is defective and causes osseous fragility. Type IV osteogenesis imperfecta is dominant inheritance. Here, we report a case of type IV osteogenesis imperfecta family and their female member’s pregnancy. Abnormal sonographic findings (marked bowing and shortening of long bones) and family history made the diagnosis of fetus with osteogenesis imperfecta. The parents decided to give up rescuing the infant and a caesarean section at 27 weeks of gestation was implemented. In conclusion, it is possible to make a prenatal diagnosis of osteogenesis imperfecta by ultrasound. For the pregnant women with osteogenesis imperfecta, management decision should be made on an individual basis.

     

惊愕性癫痫一家系临床报道并文献复习

目的 对一家系同胞兄弟3例惊愕性癫痫的家系进行临床分析.方法 收集患者病史、家族史,进行电生理等检查,结合国内外相关文献复习,对3病例的临床特点及治疗进行分析.结果 该3例患者均在青少年期发病,在外界突如其来、患者无心理准备的触觉或听觉刺激而引起的癫痫发作,表现为双侧肌阵挛发作,同时有跌倒、言语停顿等,检查发现存在智能障碍.脑电图都呈弥漫性低中波幅棘慢综合波,顶枕区域多见.诊断为惊愕性癫痫.丙戊酸钠、氯硝西泮等抗癫痫治疗后症状改善.结论 惊愕性癫痫家族性发病罕见,临床症状和脑电图是诊断惊愕性癫痫的主要依据.根据癫痫的发作类型选用抗癫痫药物进行治疗可能有效.